Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

13 matching diseasesClear search ×

Intraoral basal cell carcinoma

IOBCC intramucosal basal cell carcinoma · Basal cell carcinoma of the buccal mucosa

ORPHA:667678

Acquired cystic disease-associated renal cell carcinoma

Kidney cancer · RCC

ORPHA:404514

Chromophobe renal cell carcinoma

Chromophobe renal cell adenocarcinoma · Kidney cancer

ORPHA:319303

Clear cell papillary renal cell carcinoma

Kidney cancer · RCC

ORPHA:404511

Gorlin syndrome

Basal cell nevus syndrome · Gorlin-Goltz syndrome

ORPHA:377

Hereditary clear cell renal cell carcinoma

Hereditary clear cell renal cell adenocarcinoma · Kidney cancer

ORPHA:422526

Hereditary papillary renal cell carcinoma

HPRC · Kidney cancer

ORPHA:47044

MiT family translocation renal cell carcinoma

Carcinoma associated with MITF/TFE translocation · Kidney cancer

ORPHA:319308

MITF-related melanoma and renal cell carcinoma predisposition syndrome

Kidney cancer · RCC

ORPHA:293822

Papillary renal cell carcinoma

Kidney cancer · Papillary renal cell adenocarcinoma

ORPHA:319298

Renal cell carcinoma

Kidney cancer · RCC

ORPHA:217071

Tubulocystic renal cell carcinoma

Kidney cancer · RCC

ORPHA:319325

Vulvar basal cell carcinoma

Basal cell carcinoma of vulva

ORPHA:494451